(used for variant description)
(last modified October 3, 2026)
This file was created to facilitate the description of sequence variants on transcript NM_032430.1 in the BRSK1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering BRSK1 transcript NM_032430.1.
(upstream sequence)
. . . g.5037
gggggccggccagaaacgggctggggagggggggccc c.-241
. . . . . . g.5097
cgcagcccccctgggccatgctgactcccggggcctgacccccccgggccagccccccct c.-181
. . . . . . g.5157
cccccagctccgcggcccgccgactggggggggccagcccagccccctggggacccccgg c.-121
. . . . . . g.5217
agaggtggggggcagccgggggggccgggacggagcggtcgccggcccccaccggagaga c.-61
. . . . . . g.5277
cggggcgacggccgcagggggggcggccgggggaccggtcgggccgggaccaagggcacc c.-1
. . . . . . g.5337
ATGTCGTCCGGGGCCAAGGAGGGAGGTGGGGGCTCTCCCGCCTACCACCTCCCCCACCCC c.60
M S S G A K E G G G G S P A Y H L P H P p.20
. . . . . . g.5397
CACCCCCACCCACCCCAGCACGCCCAATATGTGGGCCCCTATCGGCTGGAGAAGACGCTG c.120
H P H P P Q H A Q Y V G P Y R L E K T L p.40
. | 02 . . . . . g.7885
GGCAAAGGACAGACAG | GGCTGGTTAAACTCGGGGTCCACTGCATCACGGGTCAGAAGGTC c.180
G K G Q T G | L V K L G V H C I T G Q K V p.60
. . . . . | 03 . g.8057
GCCATCAAGATCGTGAACCGGGAGAAGCTGTCGGAGTCGGTGCTGATGAAG | GTGGAGCGG c.240
A I K I V N R E K L S E S V L M K | V E R p.80
. . . . . . g.8117
GAGATCGCCATCCTGAAGCTCATCGAACACCCACATGTCCTCAAGCTCCACGACGTCTAC c.300
E I A I L K L I E H P H V L K L H D V Y p.100
. | 04. . . . . g.10357
GAGAACAAGAAATATTT | GTACCTGGTTCTGGAGCACGTCTCGGGGGGTGAGCTATTCGAC c.360
E N K K Y L | Y L V L E H V S G G E L F D p.120
. . . . . . g.10417
TACCTGGTAAAGAAGGGGAGACTGACGCCCAAGGAGGCCCGAAAGTTCTTCCGCCAGATT c.420
Y L V K K G R L T P K E A R K F F R Q I p.140
. . . | 05 . . g.14873
GTGTCTGCGCTGGACTTCTGCCACAGCTACTCCATCTG | CCACAGAGACCTAAAGCCCGAG c.480
V S A L D F C H S Y S I C | H R D L K P E p.160
. . . . . . g.14933
AACCTGCTTTTGGATGAGAAAAACAACATCCGCATTGCAGACTTCGGCATGGCGTCCCTG c.540
N L L L D E K N N I R I A D F G M A S L p.180
. . . | 06 . . . g.15073
CAGGTGGGGGACAGCCTCCTGGAGACCAGCTGCGG | GTCCCCCCATTATGCGTGTCCAGAG c.600
Q V G D S L L E T S C G | S P H Y A C P E p.200
| 07 . . . . . g.15214
GTGATTAAG | GGGGAAAAATATGATGGCCGCCGGGCAGACATGTGGAGCTGTGGAGTCATC c.660
V I K | G E K Y D G R R A D M W S C G V I p.220
. | 08 . . . . g.22388
CTCTTCGCCCTGCTCGTG | GGGGCTCTGCCCTTTGATGACGACAACCTCCGCCAGCTGCTG c.720
L F A L L V | G A L P F D D D N L R Q L L p.240
. . . . . . g.22448
GAGAAGGTGAAACGGGGCGTCTTCCACATGCCCCACTTCATTCCTCCAGATTGCCAGAGC c.780
E K V K R G V F H M P H F I P P D C Q S p.260
. . . . | 09 . . g.22986
CTCCTGAGGGGAATGATCGAAGTGGAGCCCGAAAAAAGGCTCAGT | CTGGAGCAAATTCAG c.840
L L R G M I E V E P E K R L S | L E Q I Q p.280
. | 10. . . . . g.23574
AAACATCCTTGGTACCT | AGGCGGGAAACACGAGCCAGACCCGTGCCTGGAGCCAGCCCCT c.900
K H P W Y L | G G K H E P D P C L E P A P p.300
. . . . . . g.23634
GGCCGCCGGGTAGCCATGCGGAGCCTGCCATCCAACGGAGAGCTGGACCCCGACGTCCTA c.960
G R R V A M R S L P S N G E L D P D V L p.320
. . . . . . g.23694
GAGAGCATGGCATCACTGGGCTGCTTCAGGGACCGCGAGAGGCTGCATCGCGAGCTGCGC c.1020
E S M A S L G C F R D R E R L H R E L R p.340
| 11 . . . . . g.24197
AGTGAGGA | GGAGAACCAAGAAAAGATGATATATTATCTGCTTTTGGATCGGAAGGAGCGG c.1080
S E E | E N Q E K M I Y Y L L L D R K E R p.360
. . . . | 12 . . g.24515
TATCCCAGCTGTGAGGACCAGGACCTGCCTCCCCGGAATGATGTTG | ACCCCCCCCGGAAG c.1140
Y P S C E D Q D L P P R N D V D | P P R K p.380
. . . . . . g.24575
CGTGTGGATTCTCCCATGCTGAGCCGTCACGGGAAGCGGCGACCAGAGCGGAAGTCCATG c.1200
R V D S P M L S R H G K R R P E R K S M p.400
. . . . . . g.24635
GAAGTCCTGAGCATCACCGATGCCGGGGGTGGTGGCTCCCCTGTACCCACCCGACGGGCC c.1260
E V L S I T D A G G G G S P V P T R R A p.420
. . | 13 . . . . g.24918
TTGGAGATGGCCCAGCACAGCCAGAG | ATCCCGTAGCGTCAGTGGAGCCTCCACGGGTCTG c.1320
L E M A Q H S Q R | S R S V S G A S T G L p.440
. . | 14. . . . g.25418
TCCTCCAGCCCTCTAAGCAGCCCAAGG | AGTCCGGTCTTTTCCTTTTCACCGGAGCCGGGG c.1380
S S S P L S S P R | S P V F S F S P E P G p.460
. . . . . . g.25478
GCTGGAGATGAGGCTCGAGGCGGGGGCTCCCCGACTTCCAAAACGCAGACGCTGCCTTCT c.1440
A G D E A R G G G S P T S K T Q T L P S p.480
. . . . . . g.25538
CGGGGCCCCAGGGGTGGGGGCGCCGGGGAGCAGCCCCCGCCCCCCAGTGCCCGCTCCACA c.1500
R G P R G G G A G E Q P P P P S A R S T p.500
. . . . . . g.25598
CCCCTGCCCGGCCCCCCAGGCTCCCCGCGCTCCTCTGGCGGGACCCCCTTGCACTCGCCT c.1560
P L P G P P G S P R S S G G T P L H S P p.520
. . . . . . g.25658
CTGCACACGCCCCGGGCCAGTCCCACCGGGACCCCGGGGACAACACCACCCCCCAGCCCC c.1620
L H T P R A S P T G T P G T T P P P S P p.540
. . . . . . g.25718
GGCGGTGGCGTCGGGGGAGCCGCCTGGAGGAGTCGTCTCAACTCCATCCGCAACAGCTTC c.1680
G G G V G G A A W R S R L N S I R N S F p.560
. . . | 15. . . g.26178
CTGGGCTCCCCTCGCTTTCACCGGCGCAAGATGCAGG | TCCCTACCGCTGAGGAGATGTCC c.1740
L G S P R F H R R K M Q V | P T A E E M S p.580
. . | 16 . . . . g.26331
AGCTTGACGCCAGAGTCCTCCCCGGA | GCTGGCAAAACGCTCCTGGTTCGGGAACTTCATC c.1800
S L T P E S S P E | L A K R S W F G N F I p.600
. . . . . . g.26391
TCCTTGGACAAAGAAGAACAAATATTCCTCGTGCTAAAGGACAAACCTCTCAGCAGCATC c.1860
S L D K E E Q I F L V L K D K P L S S I p.620
. . . | 17 . . . g.27116
AAAGCAGACATCGTCCATGCCTTTCTGTCG | ATCCCCAGCCTGAGTCACAGTGTGCTGTCA c.1920
K A D I V H A F L S | I P S L S H S V L S p.640
. . . . . . g.27176
CAGACCAGCTTCAGGGCCGAGTACAAGGCCAGTGGCGGCCCCTCCGTCTTCCAAAAGCCC c.1980
Q T S F R A E Y K A S G G P S V F Q K P p.660
. . . . . . g.27236
GTCCGCTTCCAGGTGGACATCAGCTCCTCTGAGGGTCCAGAGCCCTCCCCGCGACGGGAC c.2040
V R F Q V D I S S S E G P E P S P R R D p.680
. . . . | 18 . g.29484
GGCAGCGGAGGTGGTGGCATCTACTCCGTCACCTTCACTCTCATCTCGG | GTCCCAGCCGT c.2100
G S G G G G I Y S V T F T L I S G | P S R p.700
. . . . . . g.29544
CGGTTCAAGCGAGTGGTGGAGACCATCCAGGCACAGCTCCTGAGCACTCATGACCAGCCC c.2160
R F K R V V E T I Q A Q L L S T H D Q P p.720
. | 19 . . . . g.32786
TCCGTGCAGGCCCTGGCAG | ACGAGAAGAACGGGGCCCAGACCCGGCCTGCTGGTGCCCCA c.2220
S V Q A L A D | E K N G A Q T R P A G A P p.740
. . . . . . g.32846
CCCCGAAGCCTGCAGCCCCCACCCGGCCGCCCAGACCCAGAGCTGAGCAGCTCTCCCCGC c.2280
P R S L Q P P P G R P D P E L S S S P R p.760
. . . . . g.32903
CGAGGCCCCCCCAAGGACAAGAAGCTCCTGGCCACCAACGGGACCCCTCTGCCCTGA c.2337
R G P P K D K K L L A T N G T P L P X p.778
. . . . . . g.32963
ccccacggggccggggagggaggggacccccctccaccccccttccgtgccccccaactg c.*60
. . . . . . g.33023
tgaatctgtaaataaggcccaaggaacatgtcgggaggggggtggacacaaaaaccggcc c.*120
. . . . . . g.33083
ttgccctgcagggatggggctccacaggccgtgcccaactgggggtggttctaggggaac c.*180
. . . . . . g.33143
agggggcgggggagctgtttctattttatttattgattaatttattattttatttattga c.*240
. . . . . . g.33203
tcaatctctctgcggggtggggtgggggagggacgggagctggttggggtggcttagcag c.*300
. . . . . . g.33263
atccggacagggccctctgtccctgtgtcgtccccaaccccctcttcccgggcccctcct c.*360
. . . . . . g.33323
cccctggtcctccccccacgaccttctgtacggatttgctctccggaaggaattctggtt c.*420
. . . . . . g.33383
tcgcgtgatcctgcctgcgtccgtgtctctgattccgccggcggcaaaaaaaaaaaaaaa c.*480
. g.33397
aaaaaaaaaaaaaa c.*494
(downstream sequence)
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